The service provided by Khon Kaen University National Phenome Institute (KKUNPhI) are currently for research use only. As they have not been submitted for review to any regulatory agency/notified body for clinical diagnostics, caution must be excercisrd when describing the application of KKUNPhI service in the clinical research field.
This report presents the findings of whole genome sequencing analysis. It provides detailed associations between genetic variants and various diseases and traits, highlighting the mapped genes, relevant SNPs, and associated gene regions.
Other trait: 74.19 %
Cardiovascular disease: 9.68 %
Other disease: 4.84 %
Immune system disease: 4.84 %
Nervous system disease: 2.42 %
Digestive system disease: 1.61 %
Cancer: 0.81 %
Metabolic disease: 0.81 %
Mental disorder: 0.81 %
Gene: Gene is a segment of DNA that serves as a blueprint for producing proteins or functional RNA molecules, which carry out vital biological functions in the body. Genes are the basic units of heredity, passed from parents to offspring, and play a crucial role in determining traits and regulating cellular processes.
Single Nucleotide Polymorphism (SNP): A SNP is a variation in a single nucleotide in the DNA sequence that occurs at a specific position in the genome and is common in a population. SNPs can influence traits, disease susceptibility, and drug response.
Insertion (INS): An insertion is the addition of one or more nucleotides to a DNA sequence.
Deletion (DEL): A deletion is the removal of one or more nucleotides from a DNA sequence.
Complex (COMPLEX): A complex variant is a combination of insertions, deletions, and substitutions
Alleles: An allele is a variant form of a gene found at a specific position (locus) on a chromosome. Each allele is inherited, one from each parent.
Mapped Gene: Genes mapped near or overlapping the SNPs.
Chromosomal region: The genomic region associated with the trait or disease.
Risk Allele Frequency (%): The frequency of the risk allele in the population.
Quantification of 3-aminoisobutyrate in a sample.
Region: 5p13.2
SNPs ID: rs180749
Mapped Gene: AGXT2
Group of disease/trait: Other trait
A measurement quantifying some platelet
Region: 19q13.42
SNPs ID: rs1654447
Mapped Gene: RDH13
Group of disease/trait: Other trait
Quantification of the amount of 2-aminoisobutyric acid in a sample.
Region: 5p13.2
SNPs ID: rs180749
Mapped Gene: AGXT2
Group of disease/trait: Other disease
Description not found
Region: 15q25.1
SNPs ID: rs2568497
Mapped Gene: CRABP1 - IREB2
Group of disease/trait: Other trait
Description not found
Region: 15q25.1
SNPs ID: rs2568497
Mapped Gene: CRABP1 - IREB2
Group of disease/trait: Other trait
A measure of academic performance through educational benchmarks such as national exams and curriculum assessments.
Region: 2p25.1
SNPs ID: rs1861499
Mapped Gene: LINC00299
Group of disease/trait: Other trait
A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent p waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (cdisc)
Region: 6p22.3
SNPs ID: rs34969716
Mapped Gene: KDM1B
Group of disease/trait: Other trait
An albumin measurement is a quantification of albumin in blood. serum albumin, the main protein of plasma, has a good binding capacity for water, ca2+, na+, k+, fatty acids, hormones, bilirubin and drugs. its main function is the regulation of the colloidal osmotic pressure of blood. major zinc transporter in plasma, typically binds about 80% of all plasma zinc. low levels of albumin in the blood may indicate liver disease.
Region: 1p35.1
SNPs ID: rs16835227
Mapped Gene: RNF19B - AK2
Group of disease/trait: Other trait
An albumin measurement is a quantification of albumin in blood. serum albumin, the main protein of plasma, has a good binding capacity for water, ca2+, na+, k+, fatty acids, hormones, bilirubin and drugs. its main function is the regulation of the colloidal osmotic pressure of blood. major zinc transporter in plasma, typically binds about 80% of all plasma zinc. low levels of albumin in the blood may indicate liver disease.
Region: 1p35.1
SNPs ID: rs16835227
Mapped Gene: RNF19B - AK2
Group of disease/trait: Other trait
A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent p waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (cdisc)
Region: 6p22.3
SNPs ID: rs34969716
Mapped Gene: KDM1B
Group of disease/trait: Other trait
initation of the habit of smoking, the inhaling and exhaling of tobacco smoke.
Region: 11p15.1
SNPs ID: rs7122118
Mapped Gene: TPH1
Group of disease/trait: Other trait
A quantification of Vitamin D levels, typically in blood. Vitamin D includes both CHOLECALCIFEROLS and ERGOCALCIFEROLS, which have the common effect of preventing or curing RICKETS in animals. It can also be viewed as a hormone since it can be formed in SKIN by action of ULTRAVIOLET RAYS upon the precursors, 7-dehydrocholesterol and ERGOSTEROL, and acts on VITAMIN D RECEPTORS to regulate CALCIUM in opposition to PARATHYROID HORMONE (MeSH). 25-hydroxyvitamin D or calcifediol, a prehormone precursor of vitamin D, is widely used as a proxy to quanitfy vitamin D levels in blood.
Region: 7p15.3
SNPs ID: rs10085881
Mapped Gene: SP4 - DNAH11
Group of disease/trait: Other trait
A quantification of Vitamin D levels, typically in blood. Vitamin D includes both CHOLECALCIFEROLS and ERGOCALCIFEROLS, which have the common effect of preventing or curing RICKETS in animals. It can also be viewed as a hormone since it can be formed in SKIN by action of ULTRAVIOLET RAYS upon the precursors, 7-dehydrocholesterol and ERGOSTEROL, and acts on VITAMIN D RECEPTORS to regulate CALCIUM in opposition to PARATHYROID HORMONE (MeSH). 25-hydroxyvitamin D or calcifediol, a prehormone precursor of vitamin D, is widely used as a proxy to quanitfy vitamin D levels in blood.
Region: 7p15.3
SNPs ID: rs10085881
Mapped Gene: SP4 - DNAH11
Group of disease/trait: Other trait
An albumin measurement is a quantification of albumin in blood. serum albumin, the main protein of plasma, has a good binding capacity for water, ca2+, na+, k+, fatty acids, hormones, bilirubin and drugs. its main function is the regulation of the colloidal osmotic pressure of blood. major zinc transporter in plasma, typically binds about 80% of all plasma zinc. low levels of albumin in the blood may indicate liver disease.
Region: 1p35.1
SNPs ID: rs150944423
Mapped Gene: RNF19B - AK2
Group of disease/trait: Other trait
The measurement of HDL cholesterol in blood used as a risk indicator for heart disease.
Region: 6p21.31
SNPs ID: rs2744973
Mapped Gene: ILRUN
Group of disease/trait: Other trait
Quantification of the ratio of phospholipids to total lipids in a sample.
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Other trait
The measurement of HDL cholesterol in blood used as a risk indicator for heart disease.
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Cardiovascular disease
The number of myeloid leukocytes in a specified volume of blood, usually 1 cubic millimeter.
Region: 6q23.3
SNPs ID: rs610604
Mapped Gene: TNFAIP3
Group of disease/trait: Other trait
The number of immature platelets in a specified volume of blood.
Region: 6p22.2
SNPs ID: rs2281073
Mapped Gene: CARMIL1 - SCGN
Group of disease/trait: Other trait
Quantification of sodium-coupled monocarboxylate transporter 1 in a sample.
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Other trait
Quantification of the force applied by the hand to pull on or suspend from objects
Region: 17q21.32
SNPs ID: rs2288278
Mapped Gene: HOXB3, HOXB-AS3
Group of disease/trait: Other trait
The measurement of HDL cholesterol in blood used as a risk indicator for heart disease.
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Cardiovascular disease
Is a quantification of apolipoprotein A 1 in a sample. It is encoded in humans by the APOA1 gene and is the major protein component of high density lipoprotein (HDL) in plasma. Apolipoprotein A 1 relates to lower observational risk of coronary artery disease.
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Other trait
A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety.
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Immune system disease
measurement of the flow rate of filtered fluid through the kidney, calculated either by comparative measurements of substances in the blood and urine, or estimated from a blood test
Region: 19p13.11
SNPs ID: rs1469024
Mapped Gene: IQCN
Group of disease/trait: Other trait
quantification of the amount of very low density lipoprotein cholesterol in a sample
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Other trait
Quantification of the ratio of free cholesterol to total lipids in a sample.
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Cardiovascular disease
Quantification of the amount of intermediate density lipoprotein in a sample.
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Other trait
Quantification of the amount of intermediate density lipoprotein in a sample.
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Other trait
quantification of the amount of very low density lipoprotein cholesterol in a sample
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Other trait
Measurement of remnant cholesterol (remnant lipoprotein), which is an atherogenic lipoprotein composed primarily of very low-density lipoprotein (VLDL) and intermediate-density lipoprotein (IDL).
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Cardiovascular disease
Quantification of triglycerides in very large hdl.
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Other trait
Any disorder caused by an insufficient amount or availability of potassium, which generally manifests with myalgia, tetany, hypotension, polyuria, and polydipsia.
Region: 5q23.3
SNPs ID: rs7726795
Mapped Gene: FBN2
Group of disease/trait: Other trait
Quantification of the amount of 2,6-dihydroxybenzoic acid in a sample.
Region: 3q29
SNPs ID: rs2342307
Mapped Gene: PCYT1A, SLC51A
Group of disease/trait: Other disease
Ontology not covered
Region: 4q35.2
SNPs ID: rs4253281
Mapped Gene: KLKB1
Group of disease/trait: Other trait
A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. it is primarily a neoplasm of adults. (who 2008)
Region: 3q21.3
SNPs ID: rs9864772
Mapped Gene: LINC01565 - RPN1
Group of disease/trait: Other trait
A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease.
Region: 16p11.2
SNPs ID: rs897984
Mapped Gene: MIR4519, BCL7C, MIR762HG
Group of disease/trait: Nervous system disease
Quantification of some aspect of trauma exposure.
Region: 19q13.32
SNPs ID: rs770444611
Mapped Gene: CCDC8 - PNMA8C
Group of disease/trait: Other trait
A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.
Region: 2q31.1
SNPs ID: rs4972634
Mapped Gene: LINC01960 - RPSAP24
Group of disease/trait: Nervous system disease
Description of an individual's body size at age 10 compared to average, as reported by the individual.
Region: 8q21.13
SNPs ID: rs35918296
Mapped Gene: HNF4G - RNU2-54P
Group of disease/trait: Other trait
Quantification of neuritic (senile) plaques in the brain, senile plaques (also known as neuritic plaques, senile druse and braindruse) are extracellular deposits of amyloid beta in the grey matter of the brain.[1][2] degenerative neural structures and an abundance of microglia and astrocytes can be associated with senile plaque deposits. these deposits can also be a byproduct of senescence (ageing). however, large numbers of senile plaques and neurofibrillary tangles are characteristic features of alzheimer's disease. abnormal neurites in senile plaques are composed primarily of paired helical filaments, a component of neurofibrillary tangles.[3] the plaques are variable in shape and size, but are on average 50 µm in size.[4] in alzheimer's disease they are primarily composed of amyloid beta peptides.
Region: 12p13.31
SNPs ID: rs7294478
Mapped Gene: C1RL-AS1
Group of disease/trait: Other trait
Quanitification of argininine levels in a sample.
Region: 4q35.2
SNPs ID: rs4253281
Mapped Gene: KLKB1
Group of disease/trait: Other trait